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Biomedical subjects

S A Rasmussen

Publications and source records attributed to S A Rasmussen.

At least 73 records · Page 4Linked to original sources

Partial duplication 1q: report of four patients and review of the literature.

Here we report on 4 unrelated patients with reciprocal translocations which resulted in duplication of the distal portion of chromosome 1q. Although the patients had certain non-specific malformations in common, our investigation and a review of the literature do not suggest the existence of a distinct phenotype due to this chromosome abnormality. We think that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations. The variable phenotype makes clinical recognition difficult and precludes making a long-term prognosis.

Chromosome Aberrations↗

Evaluation of birth defect histories obtained through maternal interviews.

Etiologic studies of birth defects often use family history information provided by parents of patients. The validity of this information has not been adequately assessed. Using data from the Atlanta Birth Defects Case-Control study, we evaluated sensitivity, specificity, and positive predictive value of mothers' responses regarding the presence of birth defects in their offspring. A total of 4929 mothers of infants with major structural defects ascertained by the Metropolitan Atlanta Congenital Defects Program and a total of 3,029 mothers of normal infants were asked whether their babies had had a birth defect or a health problem diagnosed during the first year of life. Interviewers and coders of maternal responses were blinded to the case-control status of infants. Sensitivity (the proportion of case mothers who gave responses that could be coded as denoting a major birth defect) was 61%. Specificity (the proportion of control mothers who gave responses that could not be coded as denoting a major birth defect) was 98%. The positive predictive value (the proportion of mothers who gave a major-birth-defect response who in fact had babies with major birth defects) was estimated as 47%. Sensitivity, specificity, and positive predictive value varied by maternal sociodemographic factors such as race and education, as well as by type of defect. These results suggest that family history data obtained through maternal interviews should be cautiously interpreted and, if not properly validated, may alter estimates of recurrence risks.

Case-Control Studies↗

Epidemiology of obsessive compulsive disorder.

Until the early 1980s, the only estimate of the prevalence of obsessive compulsive disorder (OCD) in the general population was 0.05%. Data collected from the Epidemiology Catchment Area (ECA) survey have suggested that OCD is 50 to 100 times more common than previously believed and twice as common as schizophrenia or panic disorder in the general population. These results have been corroborated in a second, more carefully designed epidemiologic study. Several reasons account for the previous underestimation of the prevalence of the disorder: (1) reluctance of patients to divulge their symptoms; (2) lack of recognition of the diversity of presenting symptoms in OCD by professionals; (3) misdiagnosis; (4) failure to ask OCD screening questions in the routine mental status examination. Demographic and clinical characteristics of the disorder have been consistent across studies and time, supporting the validity of current nosologic criteria and the disorder's relative homogeneity. OCD appears to be familial, suggesting that genetic factors play a prominent role in the phenotypic expression of illness.

Adolescent↗

Efficacy of fluvoxamine in obsessive-compulsive disorder. A double-blind comparison with placebo.

A six- to eight-week double-blind placebo-controlled trial of the potent and selective serotonin reuptake inhibitor fluvoxamine was conducted in 42 patients with primary obsessive-compulsive disorder (OCD). Approximately one half of the patients also had symptoms of major depression. Fluvoxamine was significantly better than placebo on all measures of obsessive-compulsive symptoms. Nine of 21 patients were responders ("much improved") with fluvoxamine compared with no responders with placebo, and fluvoxamine was effective in patients with OCD both with and without secondary depression. Response of OCD was not correlated with severity of baseline depression. These data lend partial support to the serotonin hypothesis of OCD. However, since a number of patients failed to respond to fluvoxamine, the role of other neurochemical systems in this disorder needs to be explored.

Adult↗

The Yale-Brown Obsessive Compulsive Scale. I. Development, use, and reliability.

The Yale-Brown Obsessive Compulsive Scale was designed to remedy the problems of existing rating scales by providing a specific measure of the severity of symptoms of obsessive-compulsive disorder that is not influenced by the type of obsessions or compulsions present. The scale is a clinician-rated, 10-item scale, each item rated from 0 (no symptoms) to 4 (extreme symptoms) (total range, 0 to 40), with separate subtotals for severity of obsessions and compulsions. In a study involving four raters and 40 patients with obsessive-compulsive disorder at various stages of treatment, interrater reliability for the total Yale-Brown Scale score and each of the 10 individual items was excellent, with a high degree of internal consistency among all item scores demonstrated with Cronbach's alpha coefficient. Based on pretreatment assessment of 42 patients with obsessive-compulsive disorder, each item was frequently endorsed and measured across a range of severity. These findings suggest that the Yale-Brown Scale is a reliable instrument for measuring the severity of illness in patients with obsessive-compulsive disorder with a range of severity and types of obsessive-compulsive symptoms.

Adult↗

The Yale-Brown Obsessive Compulsive Scale. II. Validity.

The development design and reliability of the Yale-Brown Obsessive Compulsive Scale have been described elsewhere. We focused on the validity of the Yale-Brown Scale and its sensitivity to change. Convergent and discriminant validity were examined in baseline ratings from three cohorts of patients with obsessive-compulsive disorder (N = 81). The total Yale-Brown Scale score was significantly correlated with two of three independent measures of obsessive-compulsive disorder and weakly correlated with measures of depression and of anxiety in patients with obsessive-compulsive disorder with minimal secondary depressive symptoms. Results from a previously reported placebo-controlled trial of fluvoxamine in 42 patients with obsessive-compulsive disorder showed that the Yale-Brown Scale was sensitive to drug-induced changes and that reductions in Yale-Brown Scale scores specifically reflected improvement in obsessive-compulsive disorder symptoms. Together, these studies indicate that the 10-item Yale-Brown Scale is a reliable and valid instrument for assessing obsessive-compulsive disorder symptom severity and that it is suitable as an outcome measure in drug trials of obsessive-compulsive disorder.

Adult↗

Fluvoxamine as an antiobsessional agent.

The studies reviewed here suggest that the potent and selective serotonin reuptake inhibitor fluvoxamine is an effective treatment for OCD. Response to the antiobsessional effects of fluvoxamine is independent of baseline levels of depression. Additional studies are currently underway to determine if fluvoxamine is actually more effective in OCD than less potent blockers of serotonin reuptake (e.g., desipramine) (Goodman et al. unpublished data). However, since the clinical response to potent serotonin reuptake blockers is often incomplete or, in as many as one-third of patients, absent, the precise relevance of the monoamine reuptake blocking properties of these medications to the pathogenesis of OCD remains unclear.

Antidepressive Agents↗

Coexisting obsessive compulsive disorder and alcoholism.

Fifty patients with the diagnosis of alcohol dependence or abuse who were admitted to a university-based alcohol rehabilitation program were screened for obsessions and compulsions. Six percent (3) of the patients met DSM-III-R criteria for obsessive compulsive disorder (OCD), which is three times the lifetime prevalence for OCD found in the general population. The diagnosis of OCD is easily overlooked, so screening questions should be asked of all alcoholics during the routine clinical interview. Identifying those patients with dual diagnoses is important because treatment of the underlying OCD should improve overall clinical outcome.

Adult↗

Serotonin function in obsessive-compulsive disorder. A comparison of the effects of tryptophan and m-chlorophenylpiperazine in patients and healthy subjects.

To evaluate the role of serotonin (5-HT) function in obsessive-compulsive disorder (OCD), behavioral and biochemical responses to the 5-HT receptor agonist m-chlorophenylpiperazine (MCPP) and the 5-HT precursor tryptophan were examined in healthy subjects and patients with OCD. Baseline prolactin levels and the prolactin rise following MCPP were significantly reduced in female patients compared with female healthy subjects. In contrast, the increase in prolactin level following tryptophan administration was not significantly different between male or female patients with OCD and the respective sex-matched healthy subjects. The prolactin responses to MCPP and tryptophan were both significantly higher in female patients and healthy subjects than in their male counterparts. The cortisol and growth hormone responses to MCPP and tryptophan were similar in the patients and healthy subjects and were not related to gender. The behavioral responses to MCPP or tryptophan were not consistently different between patients and healthy subjects, and neither MCPP nor tryptophan had effects on obsessive or compulsive symptoms. These results lend only partial support to the hypothesis that 5-HT dysfunction may be linked to the pathophysiology of OCD and point to the need for the evaluation of other neurotransmitter systems in future investigations of OCD.

Adult↗

Gluteus maximus muscle function and the origin of hominid bipedality.

Bipedality not only frees the hands for tool use but also enhances tool use by allowing use of the trunk for leverage in applying force and thus imparting greater final velocity to tools. Since the weight and acceleration of the trunk and forelimbs on the hindlimbs must be counteracted by muscles such as m. gluteus maximus that control pelvic and trunk movements, it is suggested that the large size of the cranial portion of the human gluteus maximus muscle and its unique attachment to the dorsal ilium (which is apparent in the Makapan australopithecine ilium) may have contributed to the effectiveness with which trunk movement was exploited in early hominid foraging activities. To test this hypothesis, the cranial portions of both right and left muscles were investigated in six human subjects with electromyography during throwing, clubbing, digging, and lifting. The muscles were found to be significantly recruited when the trunk is used in throwing and clubbing, initiating rotation of the pelvis and braking it as trunk rotation ceases and the forelimb accelerates. They stabilize the pelvis during digging and exhibit marked and prolonged activity when the trunk is maintained in partial flexion during lifting of heavy objects.

Adult↗

Mild expression of the Pfeiffer syndrome.

The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.

Acrocephalosyndactylia↗

Mood-related obsessive-compulsive symptoms in a patient with bipolar affective disorder.

The authors present a case of coexisting obsessive-compulsive disorder (OCD) and bipolar affective disorder in which the obsessive-compulsive symptoms disappeared during episodes of mania and reappeared during periods of depression. Although patients with coexisting bipolar disorder and OCD are relatively rare, careful study of those patients may increase our understanding of the complex relationship between obsessive-compulsive symptoms and mood. Abnormalities in serotonergic neurotransmission have been postulated in both affective disorders and OCD and may provide important clues to the pathophysiology of OCD.

Bipolar Disorder↗

Effects of yohimbine in obsessive compulsive disorder.

The alpha 2-adrenergic receptor antagonist yohimbine was administered to 12 drug-free patients with obsessive compulsive disorder (OCD) and to 12 healthy subjects. Changes in behavior, cardiovascular symptoms, and in plasma levels of cortisol and the norepinephrine metabolite, 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed. Yohimbine had no significant effect on OCD symptoms. The OCD patients did not differ from healthy controls in their behavioral and MHPG response to yohimbine. In contrast to healthy subjects, OCD patients, like previous reports of depressed and panic disorders patients, had an increased cortisol response to yohimbine. These data suggest it is unlikely that abnormal noradrenergic function plays a primary role in the pathogenesis of OCD.

Adult↗

Treatment of severe obsessive-compulsive disorder with fluvoxamine.

Ten obsessive-compulsive patients received single-blind treatment with fluvoxamine, a selective serotonin reuptake inhibitor, for several weeks following at least 2 weeks of placebo. The group showed significant improvement, as measured by several clinical scales and self-ratings; six patients were judged responders. Fluvoxamine appears effective in treating severe obsessive-compulsive disorder.

Adult↗

Kinematics of locomotion in cats with partially deafferented spinal cords: the spared-root preparation.

The spinal cord was partially deafferented in two cats by dorsal rhizotomy sparing the dorsal root, L6. Kinematic methods were used to study movements of the pelvis and the affected hindlimb during treadmill walking. The E2 yield of the ankle 2 days postsurgery was of greater duration and extent than normal. Longer duration remained at 14 days, whereas the extent was normal by 5 days. Knee displacement was limited during E3. Lateral oscillations of the pelvis were exaggerated initially, but normal by 14 days. Pelvic shift over the contralateral limb suggested abnormal loading patterns during early recovery. These qualitative descriptions of motor recovery are consistent with reported central nervous system responses following partial deafferentation.

Animals↗

Clonidine in the treatment of Tourette's syndrome exacerbation due to haloperidol withdrawal.

A patient with long-standing Tourette's syndrome had a dramatic exacerbation of symptoms following the rapid withdrawal of haloperidol. Clonidine administration resulted in a disappearance of tics, which recurred 6 days later. The role of clonidine in blocking withdrawal-induced symptoms in patients with Tourette's syndrome treated with long-term neuroleptics is discussed from a clinical and neurobiological perspective. The implications of this case for the treatment of supersensitivity psychosis and tricyclic withdrawal states with clonidine are also discussed.

Acute Disease↗